{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA116733",
  "communityStandardTitle": [
    "NM_031889.3(ENAM):c.1259_1260insAG (p.Pro422ValfsTer27)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19277[alleleid]",
        "alleleId": 19277,
        "preferredName": "NM_031889.3(ENAM):c.1259_1260insAG (p.Pro422fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4238",
        "RCV": [
          "RCV000004460",
          "RCV000144087",
          "RCV001068458",
          "RCV003407274"
        ],
        "variationId": 4238
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-71508402-T-TAG",
        "id": "4-71508402-T-TAG",
        "variant": "4:71508402 T / TAG"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.71508402_71508403insAG?assembly=hg19",
        "id": "chr4:g.71508402_71508403insAG"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.70642685_70642686insAG?assembly=hg38",
        "id": "chr4:g.70642685_70642686insAG"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587776588",
        "rs": 587776588
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-71508402-T-TAG?dataset=gnomad_r2_1",
        "id": "4-71508402-T-TAG",
        "variant": "4:71508402 T / TAG"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-70642685-T-TAG?dataset=gnomad_r3",
        "id": "4-70642685-T-TAG",
        "variant": "4:70642685 T / TAG"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-70642685-T-TAG?dataset=gnomad_r4",
        "id": "4-70642685-T-TAG",
        "variant": "4:70642685 T / TAG"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "AG",
          "end": 70642685,
          "referenceAllele": "",
          "start": 70642685
        }
      ],
      "hgvs": [
        "NC_000004.12:g.70642685_70642686insAG",
        "CM000666.2:g.70642685_70642686insAG"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "AG",
          "end": 71508402,
          "referenceAllele": "",
          "start": 71508402
        }
      ],
      "hgvs": [
        "NC_000004.11:g.71508402_71508403insAG",
        "CM000666.1:g.71508402_71508403insAG"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "AG",
          "end": 71727266,
          "referenceAllele": "",
          "start": 71727266
        }
      ],
      "hgvs": [
        "NC_000004.10:g.71727266_71727267insAG"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 18942,
          "referenceAllele": "",
          "start": 18942
        }
      ],
      "hgvs": [
        "NG_013024.1:g.18942_18943insAG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002671"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 1540,
          "referenceAllele": "",
          "start": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003344",
      "geneNCBI_id": 10117,
      "geneSymbol": "ENAM",
      "hgvs": [
        "ENST00000396073.4:c.1259_1260insAG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379383.4:p.Pro422ValfsTer27",
        "hgvsWellDefined": "ENSP00000379383.4:p.[Pro422_Glu431delinsValProAsnLeuAlaLeuLeuPheAlaMet;Ile433_Pro436delinsLysSer;Glu438_Gly442delinsIleGlnArgArgSer;Lys444_Glu445delinsTrpVal;Ile447_Val449delinsLysAsnLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396073.4:c.1259_1260insAG"
          },
          "RefSeq": {
            "hgvs": "NM_031889.3:c.1259_1260insAG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379383.4:p.Pro422ValfsTer27"
          },
          "RefSeq": {
            "hgvs": "NP_114095.2:p.Pro422ValfsTer27"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 1540,
          "referenceAllele": "",
          "start": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003344",
      "geneNCBI_id": 10117,
      "geneSymbol": "ENAM",
      "hgvs": [
        "ENST00000396073.3:c.1259_1260insAG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379383.3:p.Pro422ValfsTer27",
        "hgvsWellDefined": "ENSP00000379383.3:p.[Pro422_Glu431delinsValProAsnLeuAlaLeuLeuPheAlaMet;Ile433_Pro436delinsLysSer;Glu438_Gly442delinsIleGlnArgArgSer;Lys444_Glu445delinsTrpVal;Ile447_Val449delinsLysAsnLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277079"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 99,
          "endIntronDirection": "+",
          "endIntronOffset": 4842,
          "referenceAllele": "",
          "start": 99,
          "startIntronDirection": "+",
          "startIntronOffset": 4842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003344",
      "geneNCBI_id": 10117,
      "geneSymbol": "ENAM",
      "hgvs": [
        "ENST00000472903.5:n.99+4842_99+4843insAG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314774"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 1540,
          "referenceAllele": "",
          "start": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003344",
      "geneNCBI_id": 10117,
      "geneSymbol": "ENAM",
      "hgvs": [
        "NM_031889.2:c.1259_1260insAG"
      ],
      "proteinEffect": {
        "hgvs": "NP_114095.2:p.Pro422ValfsTer27",
        "hgvsWellDefined": "NP_114095.2:p.[Pro422_Glu431delinsValProAsnLeuAlaLeuLeuPheAlaMet;Ile433_Pro436delinsLysSer;Glu438_Gly442delinsIleGlnArgArgSer;Lys444_Glu445delinsTrpVal;Ile447_Val449delinsLysAsnLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038710"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 1905,
          "referenceAllele": "",
          "start": 1905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003344",
      "geneNCBI_id": 10117,
      "geneSymbol": "ENAM",
      "hgvs": [
        "XM_006714056.2:c.1259_1260insAG"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714119.1:p.Pro422ValfsTer27",
        "hgvsWellDefined": "XP_006714119.1:p.[Pro422_Glu431delinsValProAsnLeuAlaLeuLeuPheAlaMet;Ile433_Pro436delinsLysSer;Glu438_Gly442delinsIleGlnArgArgSer;Lys444_Glu445delinsTrpVal;Ile447_Val449delinsLysAsnLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070479"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 3289,
          "referenceAllele": "",
          "start": 3289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003344",
      "geneNCBI_id": 10117,
      "geneSymbol": "ENAM",
      "hgvs": [
        "XM_006714056.4:c.1259_1260insAG"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714119.1:p.Pro422ValfsTer27",
        "hgvsWellDefined": "XP_006714119.1:p.[Pro422_Glu431delinsValProAsnLeuAlaLeuLeuPheAlaMet;Ile433_Pro436delinsLysSer;Glu438_Gly442delinsIleGlnArgArgSer;Lys444_Glu445delinsTrpVal;Ile447_Val449delinsLysAsnLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538649"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 804,
          "referenceAllele": "",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003344",
      "geneNCBI_id": 10117,
      "geneSymbol": "ENAM",
      "hgvs": [
        "NM_001368133.1:c.605_606insAG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355062.1:p.Pro204ValfsTer27",
        "hgvsWellDefined": "NP_001355062.1:p.[Pro204_Glu213delinsValProAsnLeuAlaLeuLeuPheAlaMet;Ile215_Pro218delinsLysSer;Glu220_Gly224delinsIleGlnArgArgSer;Lys226_Glu227delinsTrpVal;Ile229_Val231delinsLysAsnLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691364"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 1540,
          "referenceAllele": "",
          "start": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003344",
      "geneNCBI_id": 10117,
      "geneSymbol": "ENAM",
      "hgvs": [
        "NM_031889.3:c.1259_1260insAG"
      ],
      "proteinEffect": {
        "hgvs": "NP_114095.2:p.Pro422ValfsTer27",
        "hgvsWellDefined": "NP_114095.2:p.[Pro422_Glu431delinsValProAsnLeuAlaLeuLeuPheAlaMet;Ile433_Pro436delinsLysSer;Glu438_Gly442delinsIleGlnArgArgSer;Lys444_Glu445delinsTrpVal;Ile447_Val449delinsLysAsnLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698977",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396073.4:c.1259_1260insAG"
          },
          "RefSeq": {
            "hgvs": "NM_031889.3:c.1259_1260insAG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379383.4:p.Pro422ValfsTer27"
          },
          "RefSeq": {
            "hgvs": "NP_114095.2:p.Pro422ValfsTer27"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}